WormBase Tree Display for DO_term: DOID:0111569
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| DOID:0111569 | Name | autosomal dominant vitreoretinochoroidopathy | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A hereditary retinal dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation typically lying between the vortex veins and the ora serrata for 360 degrees and other ocular developmental anomalies that has_material_basis_in heterozygous mutation in the BEST1 gene on chromosome 11q12.3. | ||||
| Synonym | Exact | ADVIRC | |||
| VRCP autosomal dominant | |||||
| vitreoretinochoroidopathy dominant | |||||
| vitreoretinochoroidopathy with microcornea, glaucoma, and cataract | |||||
| vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos | |||||
| Parent | Is_a | DOID:8500 | |||
| DOID:0050736 | |||||
| DB_info | Database | OMIM | disease | 193220 | |
| Attribute_of | Gene_by_orthology (14) |
